Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
15211643
TITLE
Identification of families with cortical Lewy body disease.
ABSTRACT
Until recently, cortical Lewy body disease (CLB) was considered essentially the same as dementia with Lewy bodies (DLB). It is now known patients with Parkinson's disease (PD) with a later-onset dementia (PD-dementia) have the same pattern and extent of cortical Lewy body pathology. Inheritance patterns of CLB have not been evaluated previously. To identify genetic influence on CLB, all cases with this pathology need to be considered. We selected 180 cases meeting clinical and/or pathological criteria for DLB or PD (+/-dementia) from two patient groups: a PD and PD-dementia brain donor program, and a case-control study of Alzheimer's disease (AD). Cases meeting NINCDS-ADRDA criteria for probable AD were excluded and non-demented PD cases used as a comparison group. A detailed family history was taken analyzing onset and progression of dementia and PD phenotypes and a family tree constructed. The frequency of a positive family history of dementia and/or PD and risk of developing CLB in relatives was calculated. Fifty-five percent of dementia and 52% of PD cohorts did not have relatives with clinical disease. There was no increased frequency of familial disease in the CLB cohort compared with PD. However, in half the CLB families, rather than a dominant dementia, the clinical presentation varied (dementia and/or PD). Unlike PD, there was an increased risk of dementia if CLB was present in a parent ( approximately 20% risk) compared with another family member ( approximately 5% risk), suggesting CLB is more likely than PD to occur in a pattern consistent with autosomal dominant inheritance.
Copyright 2004 Wiley-Liss, Inc.
DATE PUBLISHED
2004 Jul 1
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2004/06/24 05:00
medline 2005/02/17 09:00
entrez 2004/06/24 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Harding AJ Harding Antony J AJ Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney, NSW 2031, Australia. A.Harding@unsw.edu.au
Das A Das Anurina A
Kril JJ Kril Jillian J JJ
Brooks WS Brooks William S WS
Duffy D Duffy David D
Halliday GM Halliday Glenda M GM
INVESTIGATORS
JOURNAL
VOLUME: 128B
ISSUE: 1
TITLE: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
ISOABBREVIATION: Am. J. Med. Genet. B Neuropsychiatr. Genet.
YEAR: 2004
MONTH: Jul
DAY: 1
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1552-4841
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Med Genet B Neuropsychiatr Genet
COUNTRY: United States
ISSNLINKING: 1552-4841
NLMUNIQUEID: 101235742
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Aged
Aged, 80 and over
Alzheimer Disease
Case-Control Studies
Dementia
Family Health
Female
Genes, Dominant
Humans
Inheritance Patterns
Lewy Body Disease genetics
Male genetics
Middle Aged genetics
Pedigree genetics
Phenotype genetics
Risk genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's